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【medical-news】声称基因发现会帮助预防糖尿病会
Medical Science News
Published: Thursday, 7-Sep-2006
Claims that the discovery of a gene could help prevent diabetes may raise unrealistic expectations, warn doctors in this week's British Medical Journal.
Earlier this year, scientists discovered that a variant of the TCF7L2 gene was associated with type 2 diabetes. In subsequent media coverage, they claimed this could lead to a diagnostic test to identify people who carry the variant gene and that people who knew of their extra risk would then be motivated to avoid the lifestyle habits that lead to diabetes.
Undeniably this discovery is noteworthy, write Cecile Janssens and colleagues. Type 2 diabetes is a leading cause of illness and death in the developed world and is increasing in prevalence worldwide. The association is robust - the investigators replicated their finding in three large, independent study populations - and it offers potential new insight into the pathobiology of diabetes.
Yet the claim that this knowledge will lead to a diagnostic test and hence to disease prevention - now routine for such genetic discoveries - may not be true and, above all, misleads the public.
Even if this discovery led to a 100% effective intervention that specifically targeted the effects of the genetic variant, 45% of the general population would need to receive this intervention to prevent 21% of diabetes cases, they explain. An intervention that specifically targets the effects of TCF7L2 variants would therefore need to be cheap, harmless, and burdenless to warrant such substantial overtreatment.
Alternatively, the genetic test could identify people at high risk who would benefit from appropriate advice on diet and physical activity. But many carriers would find their risk increased from 33% to only 38%. Would these figures provide enough incentive for them to change their lifestyles, they ask?
Ultimately, genetic discoveries may lead to better understanding of the disease process and to better therapeutic and preventive interventions, say the authors. In the meantime, scientists and the media are responsible for accurately and carefully interpreting the implications of studies of genetic associations for the benefit of the general public.
"Raising unrealistic expectations - even inadvertently - could distract attention from what can be done by applying what we already know to prevent diabetes and its complications, they conclude.
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声称基因发现会帮助预防糖尿病会导致不现实的期望
医学科学新闻
2006年9月7日
本周的英国医学杂志，医生警告说一个新基因的发现能够预防糖尿病的说法会引起不现实的期望。
今年早些时候，科学家们发现TCF7L2基因的变体与2型糖尿病有关。在接下来的媒体报道中，他们宣称这个发现可以开展一项诊断性的检测，发现携带有这种基因变体的人群，而这一人群在知道他们比其它人有着更高的罹患糖尿病风险后，会促进其避免易患糖尿病生活习惯。
不可否认这一发现是令人注目的，Cecile Janssens和他的同事们写道。2型糖尿病是发达国家患病和死亡的主要原因，在全球越来越流行。这种联系是确切的，研究者们在三个大型、独立的人群研究中重复了他们的发现，这对于发现糖尿病的病理机制提供了新的观点。
然而，声称这一发现会导致新的诊断性检测进而预防糖尿病，目前此类基因的发现已属于较为常规的发现，可能并不真实，更重要的是，可能会误民公众。
他们解释到，即使基于这一基因变体的发现对糖尿病发病的干预100%有效，也需要45%的人群接受这种干预来预防21%可能发生的糖尿病。针对TCF7L2基因变体的干预措施应该低价，无害，不给患者造成过度负担，并确保不进行过度治疗。
另外，基因检测能够识别出那些具有高风险的人群，而这些人群将会听从适当的关于饮食和体育锻炼的建议，从中受益。但许多这种基因的携带者发现他们的风险只是从33%上升到了38%。他们问，这些数字对他改善生活方式有足够的刺激作用吗？
最终，作者说道，基因发现可以我们更好地理解疾病过程，找到更好治疗手段和预防措施。同时，为了公众的利益，科学家和媒体应精确谨慎的解释基因相关研究的意义。
他们总结到：“引起不现实的期望，即使是不经意的，也会使我们分散注意力，不利于我们利用我们已知的知识去预防糖尿病及其并发症。” [标签:content1][标签:content2]
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作者:admin@医学,生命科学 2011-01-10 05:14
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